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rs104893808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893808(A;A)
Make rs104893808(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position181712931
GeneSOX2, SOX2-OT
is asnp
is mentioned by
dbSNPrs104893808
ebirs104893808
HLIrs104893808
Exacrs104893808
Varsomers104893808
Maprs104893808
PheGenIrs104893808
hapmaprs104893808
1000 genomesrs104893808
hgdprs104893808
ensemblrs104893808
gopubmedrs104893808
geneviewrs104893808
scholarrs104893808
googlers104893808
pharmgkbrs104893808
gwascentralrs104893808
openSNPrs104893808
23andMers104893808
23andMe allrs104893808
SNP Nexus

SNPshotrs104893808
SNPdbers104893808
MSV3drs104893808
GWAS Ctlgrs104893808
Max Magnitude0
OMIM184429
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893808(A;A)
Alt rs104893808(A;A)
Reference rs104893808(G;G)
Significance Pathogenic
Disease Optic nerve hypoplasia and abnormalities of the central nervous system
Variation info
Gene SOX2-OT SOX2
CLNDBN Optic nerve hypoplasia and abnormalities of the central nervous system
Reversed 0
HGVS NC_000003.11:g.181430719G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013674.23,